Combined oxidative phosphorylation defect type 17
Synonyms: COXPD17
Combined oxidative phosphorylation defect type 17 is a rare genetic mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by infantile-onset of severe hypertrophic cardiomyopathy (that occasionally progresses to dilated cardiomyopathy) associated with failure to thrive global development delay muscular hypotonia elevated serum lactate and complex I deficiency in skeletal muscle biopsy. Intellectual disability pericardial effusion and a mild cardiac phenotype have been also reported.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Combined oxidative phosphorylation defect type 17?
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Advocacy Organizations
United Mitochondrial Disease Foundation (UMDF)
Promoting research and education for the diagnosis, treatment and cure of mitochondrial disorders and to provide support to affected individuals and families. We are driven by a nationwide community of ambassadors solely focused on supporting patients and families affected by mitochondrial disease. We are committed and energized to make a difference by funding the best science in the world.
Clinical Trials
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